DISEASES

Disease-gene associations mined from literature

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Literature associating TBC1D24 and early myoclonic encephalopathy

TBC1D24 [ENSP00000293970]

TBC1 domain family, member 24; May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function; Deafness associated genes

Synonyms:  TBC1D24,  TBC1D24p,  hTBC1D24,  H3BNU1,  H3BTP5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.